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Abstract

October - December 2024 | Vol. 17 | Issue 4 | 09-16
Ehlers-Danlos Syndrome with Glycosaminoglycan Abnormalities: A Report of the Rare Musculocontractural and Spondylodysplastic Subtypes
Roopadarshini B1, Neelam Saini1, Ashwin Dalal2, Shagun Aggarwal1,2
1 Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India. | 2 Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
Address for Correspondence Email: shagun.genetics@gmail.com
 
Abstract
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of genetic connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and atrophic scarring. The majority of cases are caused by mutations in the collagen-encoding or collagen-modifying genes. A rarer subset of EDS with atypical presentation is caused by an abnormality in glycosaminoglycan synthesis- the spondylodysplastic type of EDS related to mutations in the genes B4GALT7, B3GALT6 or SLC39A13, and the musculocontractural EDS caused by biallelic pathogenic variants in CHST14 or DSE genes. We report two cases of EDS related to CHST14 and B3GALT6 gene variants and discuss the unique features of these rarer subtypes.
 
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